Mutations in LRRK2 other than G2019S are rare in a north-American based sample of familial Parkinson's didease

Nathan Pankratz; Michael W. Pauciulo; Veronika E. Elsaesser; Diane K. Marek; Cheyl A. Halter; Alice Rudolph; Clifford W. Shults; Tatiana Foroud; William C. Nichols; C. Shults; F. Marshall; D. Oakes; A. Shinaman; K. Marder; P. M. Conneally; K. Lyons; E. Siemers; S. Factor; D. Higgins; S. Evans; H. Shill; M. Stacy; J. Danielson; L. Marlor; K. Williamson; J. Jankovic; C. Hunter; D. Simon; P. Ryan; L. Scollins; R. Saunders-Pullman; K. Boyar; C. Costan-Toth; E. Ohmann; L. Sudarsky; C. Joubert; J. Friedman; K. Chou; H. Fernandez; M. Lannon; N. Galvez-Jimenez; A. Podichetty; P. Lewitt; M. DeAngelis; C. O'Brien; L. Seeberger; C. Dingmann; D. Judd; J. Fraser; J. Harris; J. Bertoni; C. Peterson; S. Chouinard; M. Panisset; J. Hall; H. Poiffaut; V. Calabrese; P. Roberge; J. Wojcieszek; J. Belden; C. Halter; D. Jennings; K. Marek; S. Mendick; S. Reich; B. Dunlop; M. Jog; C. Horn; J. Rao; M. Cook; R. Uitti; M. Turk; T. Ajax; J. Mannetter; K. Sethi; J. Carpenter; K. Ligon; S. Narayan; L. Woodward; K. Blindauer; J. Petit; L. Elmer; E. Aiken; K. Davis; C. Schell; S. Wilson; M. Velickovic; W. Koller; S. Phipps; A. Feigin; M. Gordon; J. Hamann; E. Licari; M. Marotta-Kollarus; B. Shannon; R. Winnick; T. Simuni; A. Kaczmarek; K. Williams

doi:10.1002/mds.21162

Mutations in LRRK2 other than G2019S are rare in a north-American based sample of familial Parkinson's didease

Nathan Pankratz
, Michael W. Pauciulo
, Veronika E. Elsaesser
, Diane K. Marek
, Cheyl A. Halter
, Alice Rudolph
, Clifford W. Shults
, Tatiana Foroud
, William C. Nichols
, C. Shults
, F. Marshall
, D. Oakes
, A. Shinaman
, K. Marder
, P. M. Conneally
, K. Lyons
, E. Siemers
, S. Factor
, D. Higgins
, S. Evans

H. Shill, M. Stacy, J. Danielson, L. Marlor, K. Williamson, J. Jankovic, C. Hunter, D. Simon, P. Ryan, L. Scollins, R. Saunders-Pullman, K. Boyar, C. Costan-Toth, E. Ohmann, L. Sudarsky, C. Joubert, J. Friedman, K. Chou, H. Fernandez, M. Lannon, N. Galvez-Jimenez, A. Podichetty, P. Lewitt, M. DeAngelis, C. O'Brien, L. Seeberger, C. Dingmann, D. Judd, J. Fraser, J. Harris, J. Bertoni, C. Peterson, S. Chouinard, M. Panisset, J. Hall, H. Poiffaut, V. Calabrese, P. Roberge, J. Wojcieszek, J. Belden, C. Halter, D. Jennings, K. Marek, S. Mendick, S. Reich, B. Dunlop, M. Jog, C. Horn, J. Rao, M. Cook, R. Uitti, M. Turk, T. Ajax, J. Mannetter, K. Sethi, J. Carpenter, K. Ligon, S. Narayan, L. Woodward, K. Blindauer, J. Petit, L. Elmer, E. Aiken, K. Davis, C. Schell, S. Wilson, M. Velickovic, W. Koller, S. Phipps, A. Feigin, M. Gordon, J. Hamann, E. Licari, M. Marotta-Kollarus, B. Shannon, R. Winnick, T. Simuni, A. Kaczmarek, K. Williams

Research output: Contribution to journal › Article › peer-review

30 Scopus citations

Abstract

A total of 956 individuals with Parkinson's disease (PD) from 430 multiplex PD pedigrees were screened for 12 previously reported, pathogenic LRRK2 mutations: R793M, L1114L, I1371V, R1441C, R1441G, R1441H, Y1699C, M1869T, I2012T, I2020T, G2385R, and IVS31 +3G>A. Previous screening identified the LRRK2 G2019S mutation in 5% of our families. Only 1 of the 12 newly screened mutations, R1441C, was detected in a single family in our patient cohort. These results indicate that, although the G2019S mutation remains the most common mutation identified in familial PD patients, other mutations in LRRK2 are infrequent

Original language	English
Pages (from-to)	2257-2260
Number of pages	4
Journal	Movement Disorders
Volume	21
Issue number	12
DOIs	https://doi.org/10.1002/mds.21162
State	Published - Dec 2006

Keywords

LRRK2
Mutation
Parkinso's disease

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10.1002/mds.21162

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Pankratz, N., Pauciulo, M. W., Elsaesser, V. E., Marek, D. K., Halter, C. A., Rudolph, A., Shults, C. W., Foroud, T., Nichols, W. C., Shults, C., Marshall, F., Oakes, D., Shinaman, A., Marder, K., Conneally, P. M., Lyons, K., Siemers, E., Factor, S., Higgins, D., ... Williams, K. (2006). Mutations in LRRK2 other than G2019S are rare in a north-American based sample of familial Parkinson's didease. Movement Disorders, 21(12), 2257-2260. https://doi.org/10.1002/mds.21162

@article{515d1c02b14044c58abf35f662abb5c8,

title = "Mutations in LRRK2 other than G2019S are rare in a north-American based sample of familial Parkinson's didease",

abstract = "A total of 956 individuals with Parkinson's disease (PD) from 430 multiplex PD pedigrees were screened for 12 previously reported, pathogenic LRRK2 mutations: R793M, L1114L, I1371V, R1441C, R1441G, R1441H, Y1699C, M1869T, I2012T, I2020T, G2385R, and IVS31 +3G>A. Previous screening identified the LRRK2 G2019S mutation in 5\% of our families. Only 1 of the 12 newly screened mutations, R1441C, was detected in a single family in our patient cohort. These results indicate that, although the G2019S mutation remains the most common mutation identified in familial PD patients, other mutations in LRRK2 are infrequent",

keywords = "LRRK2, Mutation, Parkinso's disease",

author = "Nathan Pankratz and Pauciulo, \{Michael W.\} and Elsaesser, \{Veronika E.\} and Marek, \{Diane K.\} and Halter, \{Cheyl A.\} and Alice Rudolph and Shults, \{Clifford W.\} and Tatiana Foroud and Nichols, \{William C.\} and C. Shults and F. Marshall and D. Oakes and A. Shinaman and K. Marder and Conneally, \{P. M.\} and K. Lyons and E. Siemers and S. Factor and D. Higgins and S. Evans and H. Shill and M. Stacy and J. Danielson and L. Marlor and K. Williamson and J. Jankovic and C. Hunter and D. Simon and P. Ryan and L. Scollins and R. Saunders-Pullman and K. Boyar and C. Costan-Toth and E. Ohmann and L. Sudarsky and C. Joubert and J. Friedman and K. Chou and H. Fernandez and M. Lannon and N. Galvez-Jimenez and A. Podichetty and P. Lewitt and M. DeAngelis and C. O'Brien and L. Seeberger and C. Dingmann and D. Judd and J. Fraser and J. Harris and J. Bertoni and C. Peterson and S. Chouinard and M. Panisset and J. Hall and H. Poiffaut and V. Calabrese and P. Roberge and J. Wojcieszek and J. Belden and C. Halter and D. Jennings and K. Marek and S. Mendick and S. Reich and B. Dunlop and M. Jog and C. Horn and J. Rao and M. Cook and R. Uitti and M. Turk and T. Ajax and J. Mannetter and K. Sethi and J. Carpenter and K. Ligon and S. Narayan and L. Woodward and K. Blindauer and J. Petit and L. Elmer and E. Aiken and K. Davis and C. Schell and S. Wilson and M. Velickovic and W. Koller and S. Phipps and A. Feigin and M. Gordon and J. Hamann and E. Licari and M. Marotta-Kollarus and B. Shannon and R. Winnick and T. Simuni and A. Kaczmarek and K. Williams",

year = "2006",

month = dec,

doi = "10.1002/mds.21162",

language = "English",

volume = "21",

pages = "2257--2260",

journal = "Movement Disorders",

issn = "0885-3185",

publisher = "John Wiley \& Sons Inc.",

number = "12",

}

Pankratz, N, Pauciulo, MW, Elsaesser, VE, Marek, DK, Halter, CA, Rudolph, A, Shults, CW, Foroud, T, Nichols, WC, Shults, C, Marshall, F, Oakes, D, Shinaman, A, Marder, K, Conneally, PM, Lyons, K, Siemers, E, Factor, S, Higgins, D, Evans, S, Shill, H, Stacy, M, Danielson, J, Marlor, L, Williamson, K, Jankovic, J, Hunter, C, Simon, D, Ryan, P, Scollins, L, Saunders-Pullman, R, Boyar, K, Costan-Toth, C, Ohmann, E, Sudarsky, L, Joubert, C, Friedman, J, Chou, K, Fernandez, H, Lannon, M, Galvez-Jimenez, N, Podichetty, A, Lewitt, P, DeAngelis, M, O'Brien, C, Seeberger, L, Dingmann, C, Judd, D, Fraser, J, Harris, J, Bertoni, J, Peterson, C, Chouinard, S, Panisset, M, Hall, J, Poiffaut, H, Calabrese, V, Roberge, P, Wojcieszek, J, Belden, J, Halter, C, Jennings, D, Marek, K, Mendick, S, Reich, S, Dunlop, B, Jog, M, Horn, C, Rao, J, Cook, M, Uitti, R, Turk, M, Ajax, T, Mannetter, J, Sethi, K, Carpenter, J, Ligon, K, Narayan, S, Woodward, L, Blindauer, K, Petit, J, Elmer, L, Aiken, E, Davis, K, Schell, C, Wilson, S, Velickovic, M, Koller, W, Phipps, S, Feigin, A, Gordon, M, Hamann, J, Licari, E, Marotta-Kollarus, M, Shannon, B, Winnick, R, Simuni, T, Kaczmarek, A & Williams, K 2006, 'Mutations in LRRK2 other than G2019S are rare in a north-American based sample of familial Parkinson's didease', Movement Disorders, vol. 21, no. 12, pp. 2257-2260. https://doi.org/10.1002/mds.21162

TY - JOUR

T1 - Mutations in LRRK2 other than G2019S are rare in a north-American based sample of familial Parkinson's didease

AU - Pankratz, Nathan

AU - Pauciulo, Michael W.

AU - Elsaesser, Veronika E.

AU - Marek, Diane K.

AU - Halter, Cheyl A.

AU - Rudolph, Alice

AU - Shults, Clifford W.

AU - Foroud, Tatiana

AU - Nichols, William C.

AU - Shults, C.

AU - Marshall, F.

AU - Oakes, D.

AU - Shinaman, A.

AU - Marder, K.

AU - Conneally, P. M.

AU - Lyons, K.

AU - Siemers, E.

AU - Factor, S.

AU - Higgins, D.

AU - Evans, S.

AU - Shill, H.

AU - Stacy, M.

AU - Danielson, J.

AU - Marlor, L.

AU - Williamson, K.

AU - Jankovic, J.

AU - Hunter, C.

AU - Simon, D.

AU - Ryan, P.

AU - Scollins, L.

AU - Saunders-Pullman, R.

AU - Boyar, K.

AU - Costan-Toth, C.

AU - Ohmann, E.

AU - Sudarsky, L.

AU - Joubert, C.

AU - Friedman, J.

AU - Chou, K.

AU - Fernandez, H.

AU - Lannon, M.

AU - Galvez-Jimenez, N.

AU - Podichetty, A.

AU - Lewitt, P.

AU - DeAngelis, M.

AU - O'Brien, C.

AU - Seeberger, L.

AU - Dingmann, C.

AU - Judd, D.

AU - Fraser, J.

AU - Harris, J.

AU - Bertoni, J.

AU - Peterson, C.

AU - Chouinard, S.

AU - Panisset, M.

AU - Hall, J.

AU - Poiffaut, H.

AU - Calabrese, V.

AU - Roberge, P.

AU - Wojcieszek, J.

AU - Belden, J.

AU - Halter, C.

AU - Jennings, D.

AU - Marek, K.

AU - Mendick, S.

AU - Reich, S.

AU - Dunlop, B.

AU - Jog, M.

AU - Horn, C.

AU - Rao, J.

AU - Cook, M.

AU - Uitti, R.

AU - Turk, M.

AU - Ajax, T.

AU - Mannetter, J.

AU - Sethi, K.

AU - Carpenter, J.

AU - Ligon, K.

AU - Narayan, S.

AU - Woodward, L.

AU - Blindauer, K.

AU - Petit, J.

AU - Elmer, L.

AU - Aiken, E.

AU - Davis, K.

AU - Schell, C.

AU - Wilson, S.

AU - Velickovic, M.

AU - Koller, W.

AU - Phipps, S.

AU - Feigin, A.

AU - Gordon, M.

AU - Hamann, J.

AU - Licari, E.

AU - Marotta-Kollarus, M.

AU - Shannon, B.

AU - Winnick, R.

AU - Simuni, T.

AU - Kaczmarek, A.

AU - Williams, K.

PY - 2006/12

Y1 - 2006/12

N2 - A total of 956 individuals with Parkinson's disease (PD) from 430 multiplex PD pedigrees were screened for 12 previously reported, pathogenic LRRK2 mutations: R793M, L1114L, I1371V, R1441C, R1441G, R1441H, Y1699C, M1869T, I2012T, I2020T, G2385R, and IVS31 +3G>A. Previous screening identified the LRRK2 G2019S mutation in 5% of our families. Only 1 of the 12 newly screened mutations, R1441C, was detected in a single family in our patient cohort. These results indicate that, although the G2019S mutation remains the most common mutation identified in familial PD patients, other mutations in LRRK2 are infrequent

AB - A total of 956 individuals with Parkinson's disease (PD) from 430 multiplex PD pedigrees were screened for 12 previously reported, pathogenic LRRK2 mutations: R793M, L1114L, I1371V, R1441C, R1441G, R1441H, Y1699C, M1869T, I2012T, I2020T, G2385R, and IVS31 +3G>A. Previous screening identified the LRRK2 G2019S mutation in 5% of our families. Only 1 of the 12 newly screened mutations, R1441C, was detected in a single family in our patient cohort. These results indicate that, although the G2019S mutation remains the most common mutation identified in familial PD patients, other mutations in LRRK2 are infrequent

KW - LRRK2

KW - Mutation

KW - Parkinso's disease

UR - https://www.scopus.com/pages/publications/33846463019

U2 - 10.1002/mds.21162

DO - 10.1002/mds.21162

M3 - Article

C2 - 17078063

AN - SCOPUS:33846463019

SN - 0885-3185

VL - 21

SP - 2257

EP - 2260

JO - Movement Disorders

JF - Movement Disorders

IS - 12

ER -

Mutations in LRRK2 other than G2019S are rare in a north-American based sample of familial Parkinson's didease

Abstract

Keywords

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